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Items: 4

1.

Familial retinal arterial macroaneurysm

Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011). [from OMIM]

MedGen UID:
481835
Concept ID:
C3280205
Disease or Syndrome
2.

Inflammatory myofibroblastic tumor

A rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction. [from SNOMEDCT_US]

MedGen UID:
137723
Concept ID:
C0334121
Neoplastic Process
3.

Human immunodeficiency virus infection

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
4.

Carotid artery disorder

A non-neoplastic or neoplastic disorder affecting the carotid artery. [from NCI]

MedGen UID:
2892
Concept ID:
C0007273
Disease or Syndrome
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